Article
Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.
Genes - 27 Apr 2021
Musfee Fadi I, Agopian A J, Goldmuntz Elizabeth, Hakonarson Hakon, Morrow Bernice E, Taylor Deanne M, Tristani-Firouzi Martin, Watkins W Scott, Yandell Mark, Mitchell Laura E
Abstract excerpt
There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However,...
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